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Public Health Genomics and Precision Health Knowledge Base (v9.0)
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Precision Health Database|Search|Public Health Genomics and Precision Health Knowledge Base (PHGKB)
Rare Diseases
Last data update: Apr 18, 2024
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Cystic Fibrosis[original query]>>Original Studies[Product Type]
Prevalence of common autosomal recessive mutation carriers in women in the Southern Vietnam following the application of expanded carrier screening.
Xuan-Hong To-Mai et al. Sci Rep 2024 14(1) 7461
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Development of a Low Cost Semiquantitative Polymerase Chain Reaction Assay for Molecular Diagnosis of Williams Syndrome.
Dinali M Ranaweera et al. Clin Lab 2024 70(3)
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Stakeholder Views of the Proposed Introduction of Next Generation Sequencing into the Cystic Fibrosis Screening Protocol in England.
Pru Holder et al. Int J Neonatal Screen 2024 10(1)
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Cystic Fibrosis Cases Missed by Newborn Bloodspot Screening-Towards a Consistent Definition and Data Acquisition.
Anne Munck et al. Int J Neonatal Screen 2023 9(4)
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The new face of cystic fibrosis in the era of population genetic carrier screening.
Miri Dotan et al. J Cyst Fibros 2023
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Outcome data from 15 years of cystic fibrosis newborn screening in a large UK region.
Sarah Jane Driscoll et al. Arch Dis Child 2023
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Prospects for Expansion of Universal Newborn Screening in Bulgaria: A Survey among Medical Professionals.
Georgi Iskrov et al. Int J Neonatal Screen 2023 9(4)
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Every CFTR variant counts - Target-capture based next-generation-sequencing for molecular diagnosis in the German CF Registry.
Simone Ahting et al. J Cyst Fibros 2023
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[Comparison of diagnostic data after introduction of cystic fibrosis screening in newborns in Germany].
Lutz Nährlich et al. Bundesgesundheitsblatt Gesundheitsforschung Gesundheitsschutz 2023
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Performance of single-gene noninvasive prenatal testing for autosomal recessive conditions in a general population setting.
Julia Wynn et al. Prenat Diagn 2023
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A retrospective study on newborn screening for metabolic disorders.
Karam Chandrajit Singh et al. Bioinformation 2023 18(12) 1122-1125
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Optimization of performance of Dutch newborn screening for cystic fibrosis.
M J Bouva et al. J Cyst Fibros 2023
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Experiences of cystic fibrosis newborn screening and genetic counseling.
Kimberly Foil et al. J Community Genet 2023
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Evaluation of newborn screening in the state of Mato Grosso from 2005 to 2019.
Roseli Divino Costa et al. Rev Paul Pediatr 2023 42e2022161
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Use of genome sequencing to hunt for cryptic second-hit variants: analysis of 31 cases recruited to the 100 000 Genomes Project.
A Rachel Moore et al. J Med Genet 2023
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Prevalence and Clinical Significance of Commonly Diagnosed Genetic Disorders in Preterm Infants.
Selin S Everett et al. medRxiv 2023
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Development and validation of a short form psychometric tool assessing the caregiving Challenge of Living with Cystic Fibrosis (CLCF-SF) in a child.
Gareth McCray et al. Psychol Health 2023 1-23
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Late Diagnosis in the Era of Universal Newborn Screening Negatively Effects Short- and Long-Term Growth and Health Outcomes in Infants with Cystic Fibrosis.
Stacey L Martiniano et al. J Pediatr 2023 113595
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Lung clearance index in children with cystic fibrosis previously diagnosed with CRMS/CFSPID: A monocentric prospective experience.
Vito Terlizzi et al. Pediatr Pulmonol 2023
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Clinical Consequences and Functional Impact of the Rare S737F CFTR Variant and Its Responsiveness to CFTR Modulators.
Vito Terlizzi et al. Int J Mol Sci 2023 24(7)
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Gaps in Cystic Fibrosis Care Are Associated with Reduced Lung Function in the U.S. Cystic Fibrosis Foundation Patient Registry.
Edmund H Sears et al. Annals of the American Thoracic Society 2023
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Outcomes of children with cystic fibrosis screen positive, inconclusive diagnosis/CFTR related metabolic syndrome.
Mohini A Gunnett et al. Frontiers in pediatrics 2023 111127659
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Immunoreactive Trypsinogen in Infants Born to Women with Cystic Fibrosis Taking Elexacaftor-Tezacaftor-Ivacaftor.
Payal Patel et al. International journal of neonatal screening 2023 9(1)
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Cystic fibrosis prevalence in the United States and participation in the Cystic Fibrosis Foundation Patient Registry in 2020.
Elizabeth A Cromwell et al. Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society 2023
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Sweat conductivity for diagnosing cystic fibrosis after positive newborn screening: prospective, diagnostic test accuracy study.
Renata Marcos Bedran et al. Archives of disease in childhood 2023
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Early life growth trajectories in cystic fibrosis are associated with lung function at age six.
Kevin J Psoter et al. Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society 2023
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Incidence of transaminitis in adults with cystic fibrosis taking elexacaftor/tezacaftor/ivacaftor.
Marci Wood et al. Journal of the American Pharmacists Association : JAPhA 2023
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Cystic Fibrosis: A Descriptive Analysis of Deaths in a Two-Decade Period in Brazil According to Age, Race, and Sex.
Luan Victor Frota de Azevedo et al. Diagnostics (Basel, Switzerland) 2023 13(4)
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A Multicentre Italian Study on the Psychological Impact of an Inconclusive Cystic Fibrosis Diagnosis after Positive Neonatal Screening.
Antonella Tosco et al. Children (Basel, Switzerland) 2023 10(2)
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CFTR-Related Metabolic Syndrome: Genetic Variants Increasing Pancreatitis Risk in the Pediatric Puerto Rican Population.
Jesús M Meléndez-Montañez et al. Children (Basel, Switzerland) 2023 10(2)
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Page last reviewed:
Feb 1, 2024
Page last updated:
Apr 18, 2024
Content source:
Public Health Genomics Branch in the Division of Blood Disorders and Public Health Genomics
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National Center on Birth Defects and Developmental Disabilities
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